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Reprogramming of a human induced pluripotent stem cell line from a Marfan syndrome patient harboring a heterozygous mutation of c.2939G > A in FBN1 gene.

Stem cell research - 1 Mar 2021

Qin Zhiping, Sun Liqiang, Sun Xue, Gao Xinxuan, Su Hang

Abstract excerpt

Marfan syndrome (MFS) is a connective-tissue disorder caused mainly by heterozygous mutations in the FBN1 gene that encodes fibrillin-1. In this study, human induced pluripotent stem cell (iPSC) line ZZUSAHi003-A was generated from peripheral blood mononuclear cells (PBMCs) isolated from a female patient with MFS using non-integrative Sendai virus. The iPSC line carried the FBN1 gene mutation, showed the normal...

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Fibrillin-1
Induced Pluripotent Stem Cells
Leukocytes, Mononuclear
Marfan Syndrome
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 33450697
DOI: 10.1016/j.scr.2021.102163

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Reprogramming of a human induced pluripotent stem cell line from a Marfan syndrome patient harboring a heterozygous mutation of c.2939G > A in FBN1 gene.PMID 33450697Read ↗

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